ClinVar

NM_017777.4(MKS1):c.199C>T (p.Arg67Cys)

Gene:

MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

• Chr17: 58216728 (on Assembly GRCh38)
• Chr17: 56294089 (on Assembly GRCh37)

Preferred name:

NM_017777.4(MKS1):c.199C>T (p.Arg67Cys)

HGVS:

• NC_000017.11:g.58216728G>A
• NG_013032.1:g.7878C>T
• NM_001321268.2:c.-313C>T
• NM_001321269.2:c.199C>T
• NM_001330397.2:c.199C>T
• NM_017777.4:c.199C>TMANE SELECT
• NP_001308198.1:p.Arg67Cys
• NP_001317326.1:p.Arg67Cys
• NP_060247.2:p.Arg67Cys
• NP_060247.2:p.Arg67Cys
• LRG_687t1:c.199C>T
• LRG_687:g.7878C>T
• LRG_687p1:p.Arg67Cys
• NC_000017.10:g.56294089G>A
• NM_017777.3:c.199C>T

This HGVS expression did not pass validation

Protein change:

R67C

Links:

dbSNP: rs200340896

NCBI 1000 Genomes Browser:

rs200340896

Molecular consequence:

• NM_001321268.2:c.-313C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001321269.2:c.199C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330397.2:c.199C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017777.4:c.199C>T - missense variant - [Sequence Ontology: SO:0001583]